A photo of Elizabeth Schorry.

Member, Division of Human Genetics

Professor, UC Department of Pediatrics

513-636-4760

513-636-7297

Board Certified

My Biography & Research

Biography

I have been intrigued by genetics since junior high school. I love working in a field where I can combine my interest in science with the ability to provide improved medical care to patients.

During my more than 30-year career in genetics, I’ve seen amazing changes. As we better understand how genes cause certain disorders, we can develop specific treatments and improve the health and future for many children.

As a clinical geneticist, I specialize in caring for children with many different genetic disorders. My main area of subspecialty is neurofibromatosis. I also have a special interest in Rubinstein-Taybi syndrome, tuberous sclerosis and many other genetic disorders. I strongly feel that each patient should be treated as an individual with his or her own unique needs.

I am proud to work for one of the largest neurofibromatosis clinics in the country. Our program is part of the Children's Tumor Foundation Clinic Network and the Neurofibromatosis Clinical Trials Consortium. I serve on the Children's Tumor Foundation Clinical Care Advisory Board, a position I’ve held for the past 10 years.

My research focuses on clinical trials for patients with neurofibromatosis. We want to find better treatments for bone disease in neurofibromatosis, benign neurofibromatosis tumors and associated learning difficulties.

When I’m not at work, I enjoy travel, gardening and spending time with my grandchildren.

Clinical Interests

Genetic disorders; congenital anomalies; neurofibromatosis; tuberous sclerosis; bone disease in neurofibromatosis; Ehlers-Danlos syndrome

Research Interests

History of bone complications of neurofibromatosis type 1 (NF1); learning and behavioral problems in NF1; and drug trials for plexiform neurofibromas and other NF-related tumors.

Academic Affiliation

Professor, UC Department of Pediatrics

Divisions

Genetics, Neurofibromatosis, Tuberous Sclerosis, Hereditary Cancer, Brain Tumor, Rasopathy, Human Genetics

My Locations

My Education

BS: Biology, University of Cincinnati, Cincinnati, OH, 1977.

MD: University of Michigan, Ann Arbor, MI, 1982.

Residency: Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1982-1985.

Fellowship: Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1985-1988.

Certification: American Board of Pediatrics, 1987; Clinical Genetics, American Board of Medical Genetics, 1987.

My Publications

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1. Ottenhoff, MJ; Rietman, AB; Mous, SE; Plasschaert, E; Gawehns, D; Brems, H; Oostenbrink, R; van Minkelen, R; Nellist, M; Schorry, E; et al. Genetics in Medicine. 2020; 22:889-897.

Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1. Payne, JM; Hearps, SJ C; Walsh, KS; Paltin, I; Barton, B; Ullrich, NJ; Haebich, KM; Coghill, D; Gioia, GA; Cantor, A; et al. Annals of Clinical and Translational Neurology. 2019; 6:2555-2565.

Health Supervision for Children With Neurofibromatosis Type 1. Miller, DT; Schorry, E; Ullrich, NJ; Viskochil, D; Korf, BR; Chen, E; Trotter, TL; Berry, SA; Burke, LW; Geleske, TA; et al. Pediatrics. 2019; 143:e20190660-e20190660.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Koczkowska, M; Callens, T; Gomes, A; Sharp, A; Chen, Y; Hicks, AD; Aylsworth, AS; Azizi, AA; Basel, DG; Bellus, G; et al. Genetics in Medicine. 2019; 21:867-876.

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1. Kongkriangkai, AM; King, C; Martin, LJ; Wakefield, E; Prada, CE; Kelly-Mancuso, G; Schorry, EK. American Journal of Medical Genetics, Part A. 2019; 179:602-607.

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Fisher, MJ; Belzberg, AJ; de Blank, P; De Raedt, T; Elefteriou, F; Ferner, RE; Giovannini, M; Harris, GJ; Kalamarides, M; Karajannis, MA; et al. American Journal of Medical Genetics, Part A. 2018; 176:1258-1269.

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. DiStasio, A; Driver, A; Sund, K; Donlin, M; Muraleedharan, RM; Pooya, S; Kline-Fath, B; Kaufman, KM; Prows, CA; Schorry, E; et al. Human Molecular Genetics. 2017; 26:4836-4848.

Analysis of Copy Number Variants in 11 Pairs of Monozygotic Twins with Neurofibromatosis Type. Sites, ER; Smolarek, TA; Martin, LJ; Viskochil, DH; Stevenson, DA; Ullrich, NJ; Messiaen, LM; Schorry, EK. American Journal of Medical Genetics, Part A. 2017; 173:647-653.

Activity of Selumetinib in Neurofibromatosis Type 1-Related Plexiform Neurofibromas. Dombi, E; Baldwin, A; Marcus, LJ; Fisher, MJ; Weiss, B; Kim, A; Whitcomb, P; Martin, S; Aschbacher-Smith, LE; Rizvi, TA; et al. The New England journal of medicine. 2016; 375:2550-2560.

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Payne, JM; Barton, B; Ullrich, NJ; Cantor, A; Hearps, SJ C; Cutter, G; Rosser, T; Walsh, KS; Gioia, GA; Wolters, PL; et al. Neurology. 2016; 87:2575-2584.